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Introduction: The Birt Hogg Dube syndrome is an autosomal dominant genodermatosis caused by a mutation in the folliculin gene. It is characterized by benign lung cysts with spontaneous pneumothorax, kidney tumors, and hair follicle tumors. Other solid tumors may accompany. Our case is a man with Birt Hogg Dube Syndrome who has parathyroid cancer. Clinical Case: A 50-year-old male was referred to our clinic for treatment of hypercalcemia and elevated parathormone; he complained of weakness, muscle, and joint discomfort. His previous medical history included Renal Cell Carcinoma, Coronary artery by-pass graft, pulmonary thromboembolism, hypertension, nephrolithiasis, and stage 4 chronic kidney disease. There was a familial history of colon cancer, with both his aunt and uncle having been diagnosed. The systemic evaluation revealed the presence of constipation, polyuria, pollakiuria. A palpable 3 cm nodular lesion was discovered in the inferior lobe of the patient's left thyroid, and the patient's vital signs were stable. There were lesions on the inner surface of the right thigh and the skull. The biopsies obtained from the lesions on the skin revealed a lipoma on the cranium and a fibrofolliculoma on the thigh upon pathological examination. Regarding laboratory exams, both the hemogram and transaminase levels were within normal limits. Serum albumin was measured at 4.9 g/L creatinine at 2.5 mg/dl, calcium at 12 mg/dl, ionized calcium at 5.9 mg/dl, phosphorus at 2.4 mg/dl, parathormone at 373 ng/dL, and 25-OH Vitamin D at 32 ng/ml. Alkaline phosphatase was determined to be 66 U/L, and 24-hour calcium output was 60 mg/day. The thyroid function test results were euthyroid, while the anterior pituitary panel was normal. The patient underwent a left inferior parathyroidectomy after thyroid ultrasonography and parathyroid scintigraphy revealed a parathyroid adenoma. The parathyroid carcinoma is identified in the pathology report. The ultrasound-observed nodule on the isthmus of the thyroid has been identified as thyroid papillary carcinoma. Bone mineral density was normal. A previously performed CT scan of the thorax for dyspnea revealed the presence of multiple cystic structures in the lungs. Taking into account the patient's history of multiple malignancies, an 18-FDG-PET CT scan was performed, revealing a significant FDG uptake (SUV Max: 22) in the patient's sigmoid colon. Pathology analysis of the removed lesion confirmed that it was a tubulovillous adenoma with high-grade dysplasia. The patient, who showed heterozygosity for the Folliculin gene, was identified as having Birt-Hogg-Dube syndrome after further genetic panel testing. Conclusion: According to the most recent literature evaluation, our patient is the first Birt Hogg Dube individual to present with parathyroid carcinoma. There is some evidence in the published literature linking somatic mutation of the Folliculin gene to the development of parathyroid cancer. [ABSTRACT FROM AUTHOR]

Paget's disease of bone is the metabolic bone disease that affects 2-4% of individuals over age 55 in European nations. The disease may be asymptomatic and can be detected incidentally through x-rays or biochemical tests conducted for another condition. It can also manifest as bone pain, deformity, fracture, Here, we present a case of Paget's bone disease that manifested at a young age. A 47-year-old female was referred to an endocrinology outpatient clinic due to a nonfunctional pituitary gland microadenoma. She has had constant pain in the right thigh region for the past two years, and no fractures have ever been reported. During the physical examination, the patient's right femur was sensitive to palpation. The results of the standard laboratory test were as follows: Creatinine: 0.61 mg/dl (0-1.2 mg/dl), Albumin: 50 g/L (35-52 g/L), Calcium: 9.8 mg/dl (8.8-10.6 mg/dl), Phosphorus: 4.2 mg/dl (2.6-4.5 mg/dl), PTH (Parathyroid Hormone): 33 ng/L (15-65 ng/L), Alkaline Phosphatase: 524 U/L (33-98 U/L) and 25-OH vitamin D is 43.7 mcg/L. A bone scintigraphy was performed due to the patient's elevated alkaline phosphatase levels and bone pain. The scintigraphy revealed elevated osteoblastic activity in a sclerotic lesion expanding the right femoral cortex, and the results were reported in accordance with Paget's disease. A biopsy of the right femur lesion was performed due to the patient's young age and to rule out other diagnosis such as osteosarcoma or bone metastases. The pathology results revealed thickened and distinct cement lines along with calcified bone fragments, consistent with Paget's disease. The patient was administered 5 mg of IV zoledronic acid, and the alkaline phosphatase level was determined to be 123 U/L (Reference Range: 33-98) at the one-month control following treatment. Paget's disease can be diagnosed in young people. Therefore, it is important to take into account even a slight increase in ALP levels that is linked to early radiological abnormalities. [ABSTRACT FROM AUTHOR]

Introduction: Primary thyroid lymphoma is an uncommon malignancy, accounting for 1% to 2% of extranodal lymphomas and 1% to 5% of thyroid malignancies. Large B-cell lymphoma is the most prevalent form of primary thyroid lymphoma. Here, we present a patient with hypercalcemia and a rapidly growing neck lesion who was diagnosed with diffuse large B-cell lymphoma of the thyroid gland. Clinical Case: A 75-year-old patient presented to the emergency room with loss of appetite and decreased oral intake over the previous five days, as well as abdominal pain and inability to pass gas and feces. The nausea and vomiting symptoms began simultaneously with the abdominal discomfort. Inspection revealed a distinct, palpable, and erythematous mass in the patient's neck, which the patient reported developing within the previous three months. After noticing the growing mass and consulting her primary care physician, she was referred to an ENT specialist; a biopsy was conducted and the results were pending. Her preliminary laboratory results revealed hypercalcemia and renal failure with depressed parathyroid hormone levels. The following were the initial laboratory results: creatinine 2,14 mg/dL, Ca 13,5 mg/dL, Albumin: 4,2 g/dL, P 2,9 mg/dL, Mg:1 mg/dl, parathormone 11.6 ng/dL procalcitonin 0.04% ng/mL and hemoglobin 10.2% g/dl. Abdominal CT revealed a contracted gallbladder with stone formations in the lumen, but no other abnormalities. The patient was admitted to the internal medicine ward with an initial diagnosis of hypercalcemia and prerenal acute kidney failure as a result of decreased oral intake. The patient's hypercalcemia was determined to be PTH-independent, and malignancy was suspected due to a 4-month history of progressive neck lesion. The thyroid gland was 49×40×87mm in the right and 38×40×62mm in the left, and the isthmus was 50mm thick with lobulated outlines on contrast enhanced cervical MR. The signal intensity of parenchyma was heterogeneous. 18F-FDG PET/CT uncovered a bilateral, distinct increase in the size of the thyroid gland with protrusions to the hyoid bone in superior sequences. The solid mass was found to have diffusely increased FDG uptake and a hypermetabolic pattern, both of which are indicative of malignant characteristics. The lesions encompass the trachea and there are reports of invasion of the cricoid cartilage and thyroid cartilage. A second main malignant disease concern was raised when small intestine FDG uptake and wall thickening suggested malignancy. The patient was re-evaluated by the endocrinology clinic, and additional workup tests were ordered due to the suspicion of Riedel Struma, which was based on the control sedimentation rate of 93 mm/h and the firmness of the gland upon palpation. An open surgical biopsy was performed. The pathology report concluded that it is consistent with diffuse large B-cell lymphoma that is CD20-positive. The hematology department has scheduled chemotherapy treatment for the patient. [ABSTRACT FROM AUTHOR]

Introduction: Seckel syndrome is a disease with nine distinct phenotypes that is inherited autosomally recessively and is caused by DNA damage on chromosomes 3, 13, and 18. It is also known as 'bird-headed dwarfism' due to the disease's characteristic phenotypic features, microcephaly and dwarfism. In addition to mental retardation, other possible complications include bilateral optic atrophy, strabismus, hearing difficulties, micrognathia, microdontia, hypodontia, malocclusion of the mandible, scoliosis, bone anomalies, hematological, endocrinological, genitourinary, neurological anomalies (epilepsy, etc.), and cancers. Presented here is a patient with metabolic dysfunction who has been diagnosed with Seckel's syndrome. Clinical Case: A male patient, age 22, was admitted to the endocrinology outpatient clinic for regulation of hyperglycemia. The patient's medical history included diabetes of type 2 since 2021, hypothyroidism, mental retardation, and hepatosteatosis. His parents were related as first cousins. One of the patient's two brothers has been diagnosed with Seckel syndrome. On his physical examination, his temperature was 36.1°C, his blood pressure was 92/61 mmHg, his heart rate was 76 beats per minute, his height was 125 cm, his weight was 19 kg, and his BMI was 12 kg/m2. Microcephaly, hypodontia, and micrognotia were observed. The patient was using insulin glargin 32 units, insulin aspart 2×18 units, metformin 500mg once day, and levothyroxine sodium 50mcg. In blood glucose follow-ups, the highest was 304 mg/dl and the lowest was 127 mg/dl, whereas Hba1c was 7.5% and c-peptide was 2.44 ng/ml. Anti-GAD, anti-islet cell, anti-TPO, and antithyroglobulin antibodies were negative. Insulin glargine was changed to 34 units, and insulin aspart was changed to 2×20 units. Due to mental retardation and hypodontia, it was discovered that the patient could not pay attention to his diet, could hardly eat solid foods, and was provided primarily liquids, particularly sugar-sweetened, flavored, and carbonated soft drinks. The patient was referred to the dental polyclinic and dietitian, while the family was monitored at the genetics polyclinic. Conclusion: Follow-up care for patients with Seckel syndrome should include routine metabolic screening. Due to the patient's mental cooperation and dietary habits resulting from dental anomalies, metabolic control may be challenging. To ensure metabolic homeostasis in these patients, a multidisciplinary approach is necessary, involving the patient, his or her family, in multidisciplinary setting. [ABSTRACT FROM AUTHOR]